Pharmacogenomics最新文献

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Clinically actionable genetic variation in patients with or at high-risk of cardiovascular diseases from the Montreal Heart Institute. 蒙特利尔心脏研究所心血管疾病高危患者的临床可操作遗传变异
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-01-12 DOI: 10.1080/14622416.2025.2609367
Marc-Olivier Pilon, Jessica Hindi, Essaïd Oussaïd, Farida Amani, Marie-Christyne Cyr, Ian Mongrain, Johanna Sandoval, Louis-Philippe Lemieux Perreault, David Busseuil, Jean-Claude Tardif, Grégoire Leclair, Marie-Pierre Dubé, Simon de Denus
{"title":"Clinically actionable genetic variation in patients with or at high-risk of cardiovascular diseases from the Montreal Heart Institute.","authors":"Marc-Olivier Pilon, Jessica Hindi, Essaïd Oussaïd, Farida Amani, Marie-Christyne Cyr, Ian Mongrain, Johanna Sandoval, Louis-Philippe Lemieux Perreault, David Busseuil, Jean-Claude Tardif, Grégoire Leclair, Marie-Pierre Dubé, Simon de Denus","doi":"10.1080/14622416.2025.2609367","DOIUrl":"10.1080/14622416.2025.2609367","url":null,"abstract":"<p><strong>Aim: </strong>Pharmacogenomics enables treatments to be tailored to individual genetic profiles, optimizing efficacy while reducing adverse effects. The Clinical Pharmacogenetics Implementation Consortium (CPIC) classifies gene-drug pairs by their level of evidence. Level A and B pairs are considered actionable, indicating that prescribers should (A) or could (B) modify therapy.</p><p><strong>Materials and methods: </strong>This cross-sectional study aimed to assess the prevalence of actionable CPIC variants in the Montreal Heart Institute (MHI) Hospital Cohort. Genotyping was performed at the MHI Beaulieu-Saucier Pharmacogenomics Center using Agena's MassARRAY and Illumina's Global Screening Array. Genes <i>ABCG2</i>, <i>CYP2B6</i>, <i>CYP2C9</i>, <i>CYP2C19</i>, <i>CYP2D6</i>, <i>CYP3A5</i>, <i>CYP4F2</i>, <i>DPYD</i>, <i>HLA-A</i>, <i>HLA-B</i>, <i>SLCO1B1</i>, <i>TPMT</i>, <i>UGT1A1</i>, and <i>VKORC1</i> were analyzed in 10,082 participants.</p><p><strong>Results: </strong>Participants had an average of 3.9 genes with actionable variants, and among the full cohort, 99.7% carried at least one actionable variant. Of the 65 CPIC level A or B gene-drug pairs evaluated, 57 involved medications used by at least one participant. Nearly 40% of participants had at least one actionable gene-drug pair - that is, they were taking a medication for which they carried an actionable variant.</p><p><strong>Conclusion: </strong>This study confirms the high prevalence of actionable genetic variants in individuals with or at high risk of cardiovascular diseases.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"659-672"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145952774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of NAT2 genetic variants in anti-tuberculosis drug-induced liver injury (AT-DILI): a meta-analysis. NAT2基因变异在抗结核药物性肝损伤(AT-DILI)中的作用:荟萃分析
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-02-09 DOI: 10.1080/14622416.2026.2624364
Vrunda Tavkar, Ankita Goyal, Vishal Chopra, Kranti Garg, Siddharth Sharma
{"title":"The role of NAT2 genetic variants in anti-tuberculosis drug-induced liver injury (AT-DILI): a meta-analysis.","authors":"Vrunda Tavkar, Ankita Goyal, Vishal Chopra, Kranti Garg, Siddharth Sharma","doi":"10.1080/14622416.2026.2624364","DOIUrl":"10.1080/14622416.2026.2624364","url":null,"abstract":"<p><strong>Background: </strong>Anti-tuberculosis drug-induced liver injury (AT-DILI) is one of the significant adverse effects of first-line tuberculosis therapy, frequently resulting in treatment discontinuation. Genetic polymorphisms in N-acetyltransferase 2 (<i>NAT2</i>), a key enzyme in the metabolism of isoniazid (an anti-TB drug), are suggested to influence AT-DILI susceptibility.</p><p><strong>Methods: </strong>A meta-analysis of published studies was conducted to evaluate the association between <i>NAT2</i> polymorphisms and the risk of AT-DILI. Literature searches were conducted in PubMed, Web of Science, Wiley, ScienceDirect, and Medline up to December 2024. A total of 48 studies comprising 11,035 patients were included. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Subgroup analyses were conducted based on region, study design, genotyping method, hepatotoxicity definitions, and <i>NAT2</i> genetic variants. Heterogeneity, publication bias, quality assessment, and sensitivity analysis were assessed using the I<sup>2</sup> statistic, Egger's test, the Newcastle-Ottawa Scale (NOS), and the leave-one-out method, respectively.</p><p><strong>Results: </strong>Slow acetylator genotypes were significantly associated with an increased risk of AT-DILI (pooled OR = 3.02; 95% CI = 2.50-3.64; <i>p</i> < 0.001). Moderate heterogeneity was observed (I<sup>2</sup> = 58.74%). No significant publication bias was observed (<i>p</i> = 0.199).</p><p><strong>Conclusion: </strong><i>NAT2</i> acetylator status was significantly associated with the likelihood of experiencing hepatotoxicity related to anti-tuberculosis drugs.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"787-803"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patient and provider perceptions of pharmacogenetic testing in gynecologic surgery: a cross-sectional analysis. 妇科手术中患者和提供者对药物遗传学检测的看法:一项横断面分析。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-01-13 DOI: 10.1080/14622416.2026.2615708
Glenda Hoffecker, Victoria Wittner, Lakeisha Mulugeta-Gordon, Stefan Gysler, Mary DeAgostino-Kelly, Sony Tuteja
{"title":"Patient and provider perceptions of pharmacogenetic testing in gynecologic surgery: a cross-sectional analysis.","authors":"Glenda Hoffecker, Victoria Wittner, Lakeisha Mulugeta-Gordon, Stefan Gysler, Mary DeAgostino-Kelly, Sony Tuteja","doi":"10.1080/14622416.2026.2615708","DOIUrl":"10.1080/14622416.2026.2615708","url":null,"abstract":"<p><strong>Aim: </strong>To determine Penn Medicine patients' and gynecologic providers' knowledge and attitudes about pharmacogenetic (PGx) testing.</p><p><strong>Methods: </strong>In this cross-sectional study, surveys were distributed to patients and gynecologic surgeons who participated in a randomized, prospective, open-label pilot study using PGx results to assist in the selection of postoperative analgesic medications. The primary objective was to understand patient- and provider-level factors that impact PGx test adoption.</p><p><strong>Results: </strong>A majority (67%) of patients planned to share their results with their healthcare providers, and many patients (52%) were interested in having a PGx specialist further explain their results. Few (12%) gynecologic surgeons were confident in their ability to use PGx results to guide medication prescribing. The most common barrier identified was lack of training or experience with PGx testing (91%).</p><p><strong>Conclusion: </strong>Patients want to share their results with their providers and desire further explanation. However, gynecologic surgeons do not feel prepared to utilize these PGx results to make prescribing decisions. Therefore, efforts focused on PGx education for physicians are essential prior to implementing testing into clinical practice.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"695-702"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145960031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Importance of genetic ancestry in pharmacogenomics for precision medicine. 遗传祖先在药物基因组学中对精准医学的重要性。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-02-07 DOI: 10.1080/14622416.2026.2620360
Rasika Venkatesh, Karl Keat, Maxwell Salvatore, Zinhle Cindi, Molly A Hall, Marylyn D Ritchie
{"title":"Importance of genetic ancestry in pharmacogenomics for precision medicine.","authors":"Rasika Venkatesh, Karl Keat, Maxwell Salvatore, Zinhle Cindi, Molly A Hall, Marylyn D Ritchie","doi":"10.1080/14622416.2026.2620360","DOIUrl":"10.1080/14622416.2026.2620360","url":null,"abstract":"<p><p>Genetic ancestry refers to an individual's biogeographical origins inferred from correlated allele frequencies shared with individuals from similar ancestral regions. Understanding the complexities of genetic ancestry has proven beneficial in the field of pharmacogenomics (PGx), where personalized medication regimens are optimizing therapeutic outcomes while minimizing the risk of side effects. With the rise in the availability of electronic health records (EHR), population-specific genetic data can be integrated with clinical data using machine learning approaches to improve personalized treatment plans. Furthermore, multiomics data such as the transcriptome, methylome, proteome, and metabolome, paired with advances in machine learning methods, provide a more comprehensive approach to understanding genetic variation. The expansion of PGx studies in diverse populations can broaden the impact of precision medicine, particularly among underrepresented groups.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"747-762"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146132097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A review of the existing pharmacogenomic literature of naltrexone for use in alcohol use disorder. 纳曲酮用于酒精使用障碍的现有药物基因组学文献综述。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-01-18 DOI: 10.1080/14622416.2026.2613634
Christopher Counts, Nisha Ali, Syed Ali, Kafilah A Muhammad, Fatoumata B Diop, Keith Sims, Amarachukwu Ajoku, Cynthia Santos
{"title":"A review of the existing pharmacogenomic literature of naltrexone for use in alcohol use disorder.","authors":"Christopher Counts, Nisha Ali, Syed Ali, Kafilah A Muhammad, Fatoumata B Diop, Keith Sims, Amarachukwu Ajoku, Cynthia Santos","doi":"10.1080/14622416.2026.2613634","DOIUrl":"10.1080/14622416.2026.2613634","url":null,"abstract":"<p><p>Naltrexone is an opioid receptor antagonist used to treat alcohol use disorder; however, like other commonly used addiction treatment options, it demonstrates inconsistency in treatment response. Pharmacogenomics may be used to individualize addiction treatment and identify patients who would be better candidates for this drug. Recently, the Clinical Pharmacogenomics Implementation Consortium (CPIC) provided guidelines on pharmacogenomic testing for naltrexone. Pharmacogenomic testing targets for naltrexone include pharmacodynamic genes, like the mu-opioid receptor gene <i>OPRM1</i>, as well as pharmacokinetic genes, like alcohol and aldehyde dehydrogenase (<i>ADH</i> and <i>ALDH</i>, respectively). In this article, we review the studies investigating the genotypes associated with either substance craving, intoxication effect, or relapse in patients receiving naltrexone to treat alcohol addiction. A common single nucleotide polymorphism (SNP) in OPRM1 called rs1799971 has been found to contribute to an improved naltrexone response in some studies. However, prospective genotype-stratified trials and meta-analyses have failed to confirm a clinically significant moderating effect. While not as studied as <i>OPRM1</i>, alcohol metabolizing enzymes, <i>ALDH2</i> and <i>ADH1B</i>, may also contribute to naltrexone response. Current evidence does not support clinical implementation of genotyping for naltrexone prescribing decisions; however, further research on the pharmacogenomics of naltrexone is warranted.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"763-772"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ATP-binding cassette transporter polymorphisms and the pharmacokinetics of oral esketamine. atp结合盒转运体多态性和口服艾氯胺酮的药代动力学。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-01-20 DOI: 10.1080/14622416.2026.2617376
Jérôme C Oude Nijhuis, Daniël T Coerts, Jens H van Dalfsen, Sanne Y Smith-Apeldoorn, Jolien K E Veraart, Robert A Schoevers, Daan J Touw, Ron H N van Schaik, Wim J Tamminga
{"title":"ATP-binding cassette transporter polymorphisms and the pharmacokinetics of oral esketamine.","authors":"Jérôme C Oude Nijhuis, Daniël T Coerts, Jens H van Dalfsen, Sanne Y Smith-Apeldoorn, Jolien K E Veraart, Robert A Schoevers, Daan J Touw, Ron H N van Schaik, Wim J Tamminga","doi":"10.1080/14622416.2026.2617376","DOIUrl":"10.1080/14622416.2026.2617376","url":null,"abstract":"<p><p>Oral esketamine is a promising new therapy for treatment-resistant depression. However, concerns exist about interindividual pharmacokinetic variability. Genetic polymorphisms regulating the expression of ATP-binding cassette (ABC) transporters might influence bioavailability. Utilizing blood samples from a placebo-controlled trial investigating repeated, low dose oral esketamine (<i>N</i> = 18), we performed <i>ABCB1</i> 3435C > T and <i>ABCG2</i> 421C > A genotyping and measured the plasma levels of esketamine and its metabolites 4 h after dosing. For <i>ABCB1</i> 3435C > T, esketamine concentrations for C/C (<i>Mdn</i> = 3.8 µg/L), C/T (<i>Mdn</i> = 2.7 µg/L), and T/T (<i>Mdn</i> = 1.0 µg/L) were not significantly different (χ<sup>2</sup>(2) = 3.41, <i>p = </i>0.182). For <i>ABCG2</i> 421C > A, esketamine concentrations did not differ significantly between C/A (<i>Mdn</i> = 1.5 µg/L) and C/C (<i>Mdn</i> = 2.4 µg/L) (<i>U</i> = 10.00, <i>p</i> = 0.471). Metabolite plasma concentrations were also not associated with polymorphism status. These results suggest that oral esketamine pharmacokinetics are unaffected by ABC transporter polymorphisms. However, due to the limited sample size and genotype variant representation, results are preliminary. Larger, more adequately powered studies are needed to clarify genotype effects and inform individualized esketamine therapyClinical trial registration: NTR6161 (Dutch Trial Register).</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"703-709"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146011656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification and functional characterization of 11 novel CYP2C19 variants in the Chinese Han population. 中国汉族人群中11个CYP2C19新变异的鉴定和功能特征
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-02-05 DOI: 10.1080/14622416.2026.2624546
Qinrong Lin, Wenfeng Xu, Qiaoling Zhang, Zebei Lu, Peiwu Geng, Chunhong Chen, Yuntong Ma, Aixia Han, Rucong Liu, Shangqing Wu, Jianping Cai, Pengfei Jin, Shuanghu Wang, Da-Peng Dai
{"title":"Identification and functional characterization of 11 novel <i>CYP2C19</i> variants in the Chinese Han population.","authors":"Qinrong Lin, Wenfeng Xu, Qiaoling Zhang, Zebei Lu, Peiwu Geng, Chunhong Chen, Yuntong Ma, Aixia Han, Rucong Liu, Shangqing Wu, Jianping Cai, Pengfei Jin, Shuanghu Wang, Da-Peng Dai","doi":"10.1080/14622416.2026.2624546","DOIUrl":"10.1080/14622416.2026.2624546","url":null,"abstract":"<p><strong>Introduction: </strong>The cytochrome P450 2C19 (CYP2C19) enzyme plays a critical role in the metabolism of several clinically important drugs, but the genetic polymorphisms of <i>CYP2C19</i> have been partially characterized in the Chinese population.</p><p><strong>Methods: </strong>Genomic DNA from 1210 Chinese Han individuals was subjected to next-generation sequencing to screen for CYP2C19 variants, and newly identified mutations were confirmed by Sanger sequencing. CYP2C19 microsomes were expressed in vitro using an insect cell expression system, and their metabolic activity toward (S)-mephenytoin was quantified by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS).</p><p><strong>Results: </strong>Genetic screening of <i>CYP2C19</i> gene in 1210 Chinese Han individuals was performed and identified 11 previously unreported variants. Recombinant expression of these novel variants in insect microsomes demonstrated that approximately half of the variants exhibited protein expression levels comparable to the wild type. Using (S)-mephenytoin as a probe substrate, in vitro metabolic activity assays revealed that five variants (G79X, D188fs, A297D, A297V, and T302R) exhibited abolished enzymatic activity, whereas the remaining variants showed significantly reduced activity compared to the wild-type enzyme.</p><p><strong>Conclusion: </strong>This study reveals a high prevalence of functionally impaired rare <i>CYP2C19</i> variants in the Chinese Han population, underscoring their potential clinical relevance for personalized medicine.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"729-740"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of pharmacogenomics in managing cisplatin toxicity. 药物基因组学在顺铂毒性管理中的作用。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-01-23 DOI: 10.1080/14622416.2026.2620363
M Eileen Dolan
{"title":"The role of pharmacogenomics in managing cisplatin toxicity.","authors":"M Eileen Dolan","doi":"10.1080/14622416.2026.2620363","DOIUrl":"10.1080/14622416.2026.2620363","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"657-658"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146030408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pharmacogenomics of anthracycline-cyclophosphamide-taxane chemotherapy: an influence of CYP polymorphisms and BMI on breast cancer treatment outcomes. 蒽环类药物-环磷酰胺-紫杉烷化疗的药物基因组学:CYP多态性和BMI对乳腺癌治疗结果的影响
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-02 DOI: 10.1080/14622416.2025.2593225
Tanuma Mistry, Partha Nath, Neyaz Alam, Vilas D Nasare
{"title":"Pharmacogenomics of anthracycline-cyclophosphamide-taxane chemotherapy: an influence of <i>CYP</i> polymorphisms and BMI on breast cancer treatment outcomes.","authors":"Tanuma Mistry, Partha Nath, Neyaz Alam, Vilas D Nasare","doi":"10.1080/14622416.2025.2593225","DOIUrl":"10.1080/14622416.2025.2593225","url":null,"abstract":"<p><strong>Aims: </strong>Sequential Anthracycline-Taxane chemotherapy is standard treatment for BC. This study examines the combined impact of low BMI and <i>CYP</i> polymorphisms on treatment response.</p><p><strong>Method: </strong>BMI was assessed before chemotherapy, and clinical response was evaluated using RECIST v.1. Four SNPs in <i>CYP2C9</i>, <i>CYP2C19</i>, and <i>CYP3A4</i> gene were analyzed in 148 samples using PCR-RFLP.</p><p><strong>Results: </strong><i>CYP2C19</i> (G681A) was significantly associated with treatment non-responsiveness in all genetic models namely dominant (OR11.119; 95%CI [5.103-24.228], <i>p</i> < 0.0001), recessive (15.818; [4.548-55.015]; <i>p</i> < 0.0001), codominant (χ<sup>2</sup> 48.229; <i>p</i> < 0.0001). No significant association was found in other two genes <i>CYP2C9</i> (C430T, A32621C) and <i>CYP3A4</i> (A392G). When combined with BMI, the <i>CYP2C19</i> AA genotype showed significant associations with poor treatment response for low BMI group across all genetic models: dominant (9.60; [2.892-31.864]; <i>p</i> < 0.0001), recessive (1.473; [1.404-2.164]; <i>p</i> < 0.001), and codominant (χ<sup>2</sup> 18.897; <i>p</i> < 0.0001) and AA associated with lowest PFS: 38 months; HR >1. OS (39.79 months; <i>p</i> = 0.039) were lowered among GA genotype with increased HR (HR 3.78; <i>p</i> = 0.031).</p><p><strong>Conclusion: </strong>AA genotype at G681A in low BMI patients showed the poorest chemotherapy response and lowest PFS (HR>1). <i>CYP2C19</i> variants (AA) may serve as predictive markers for non-responsiveness towards AC-T chemotherapy in low BMI BC patients, highlighting the need for genetic counselling and nutritional support to improve treatment outcomes.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"593-604"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12959188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring experiential learning opportunities in pharmacogenomics for pharmacy education. 探索药物基因组学在药学教育中的体验式学习机会。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-23 DOI: 10.1080/14622416.2025.2601206
Nicole Keuler, Jane McCartney, Renier Coetzee, Rustin Crutchley
{"title":"Exploring experiential learning opportunities in pharmacogenomics for pharmacy education.","authors":"Nicole Keuler, Jane McCartney, Renier Coetzee, Rustin Crutchley","doi":"10.1080/14622416.2025.2601206","DOIUrl":"10.1080/14622416.2025.2601206","url":null,"abstract":"<p><strong>Introduction: </strong>Precision medicine is the future of healthcare, and pharmacists are well-positioned to play a key role in pharmacogenomics (PGx). Experiential learning offers valuable opportunities to gain hands-on experience in clinical PGx practices. This study aimed to explore experiential learning opportunities in PGx for pharmacy education.</p><p><strong>Methods: </strong>Four PGx clinics in the United States of America, which provide PGx services, were observed to assess the potential for experiential learning. Qualitative data were collected through observations of PGx clinic consultations and semi-structured interviews with four pharmacists, one at each site. This approach provided insight into the practice-based learning opportunities in PGx clinics to explore experiential learning.</p><p><strong>Results: </strong>Multiple experiential learning opportunities were identified, including activities to develop knowledge and skills; conduct research; collaborate with an interprofessional team; create patient education resources; provide patient and healthcare education; provide comprehensive care; develop evidence-based medicine skills, including the use of PGx resources; address ethical, legal, and social implications of PGx, and leadership.</p><p><strong>Conclusion: </strong>Pharmacogenomics clinics offer valuable experiential learning opportunities for pharmacy education. Collaboration between healthcare and higher education institutions is essential to create these opportunities, ensuring the development of pharmacists who are prepared to meet future healthcare needs.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"625-634"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12773644/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145810869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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